About: congenital disorder of glycosylation It

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: congenital disorder of glycosylation It Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	congenital disorder of glycosylation type I autosomal recessive disease nodeID://b50941212 nodeID://b50941213 nodeID://b50941214
label	congenital disorder of glycosylation It
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080570
database_cross_reference	OMIM:614921 ORDO:319646
has_exact_synonym	congenital disorder of glycosylation 1t (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941215

Faceted Search & Find service v1.17_git144 as of Jul 26 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 16 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software